107656002: Congenital anomaly (morphologic abnormality)

Status: retired, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

172092016 Congenital anomaly en Synonym Active Case insensitive SNOMED CT core

593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly	Is a	Morphologically abnormal structure	false	Inferred relationship	Some
Congenital anomaly	Is a	Developmental abnormality	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Spinal cord hypoplasia	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of azygos vein	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Duplication with other complex rearrangement	Associated morphology	False	Congenital anomaly	Inferred relationship	Some
Duodenal web	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Female infertility due to structural congenital anomaly of cervix	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Laryngeal cleft type IV	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Incomplete ossification of centrum of lumbar vertebra	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Translocation Down syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Some
Anomaly of thyroid gland NEC NOS	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Laryngeal cleft type II	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Beaked pelvis	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Brockman operation	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Mottled tooth NOS	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Incomplete ossification of femur	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Minor partial trisomy	Associated morphology	False	Congenital anomaly	Inferred relationship	Some
Generalised macrodontia	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Constriction ring of lower limb with lymphoedema	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Lack of ossification of hyoid bone	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Localised congenital cutis laxa	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Spina bifida of cervical region	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	2
Absence of digestive system NOS	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Straddling mitral valve	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital disorder of gallbladder and biliary tract	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
L - transposition of the great vessels	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	2
Anomalies of thyroid gland NEC	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Macrodontia	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Laryngeal cleft type III	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Mottling of enamel	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital folds of the posterior segment	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
4p partial trisomy syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Some
Nasal glial heterotopia	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	2
Other specified heart anomalies NOS	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital overgrowth of foot	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Bicornuate uterus affecting obstetric care	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Other upper limb and shoulder anomaly	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital amputation of unspecified limb	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other congenital deformities of skull, face and jaw	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Hyperplasia of islet alpha cells with glucagon excess	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	2
Congenital deformity of knee joint	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Palmoplantar hyperkeratosis-hyperpigmentation syndrome of Cantu	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Lissencephaly	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Correction of congenital deformity of forefoot	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Precocious exfoliation of teeth related to idiopathic root resorption	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Infantile pelvis	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Other specified respiratory system anomaly NOS	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Chromosomal anomalies NOS	Associated morphology	False	Congenital anomaly	Inferred relationship	Some
Congenital anomaly of cornea	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Ullrich-Feichtiger syndrome, chimaera	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Partial trisomy syndrome NOS	Associated morphology	False	Congenital anomaly	Inferred relationship	Some
Congenital anomaly of exoccipital bone	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Anomaly of aorta, unspecified	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Spina bifida without hydrocephalus - open NOS	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Respiratory system anomaly NOS	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Single congenital cerebral cyst	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Benign autosomal dominant osteopetrosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Malformation of urachus	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Upper limb anomaly, unspecified	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of cervical vertebra	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Correction of obstetric palsy	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of cardiovascular system	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital splenorenal shunt	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Skull or face bone anomaly NOS	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Trisomies of autosomes NEC	Associated morphology	False	Congenital anomaly	Inferred relationship	Some
Congenital extrahepatic portal-systemic shunt	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Anomalies of great veins	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Deep vein aplasia	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Atresia of larynx and trachea	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Partial tetrasomy of chromosome 9	Associated morphology	False	Congenital anomaly	Inferred relationship	Some
Klinefelter's syndrome NOS	Associated morphology	False	Congenital anomaly	Inferred relationship	Some
Dysgenesis of corpus callosum	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
22q partial monosomy	Associated morphology	False	Congenital anomaly	Inferred relationship	Some
Bicornuate uterus - baby delivered	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital synostosis of lower limb bones	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Individual with autosomal fragile site	Associated morphology	False	Congenital anomaly	Inferred relationship	Some
Other specified respiratory system anomalies	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Other anomaly of spine	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Ulnar dimelia	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	2
Anomaly of lung, unspecified	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Enamel pearls	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Pancreas divisum	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	2
Abnormal atrioventricular connection - biventricular	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of lower limb	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
[X]Other congenital hydrocephalus	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	2
Lack of ossification of ulna	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital flaccid paralysis	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Myelinated nerve fibres of optic disc	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Interrupted aortic arch	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Cerebral cortical dysgenesis	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Localised cortical dysplasia	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Dysplastic ovary	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of lacrimal gland	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Abnormal atrioventricular connection	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital subluxation of carpus	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	2
Spinal dysgenesis	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Whole chromosome trisomy syndrome NOS	Associated morphology	False	Congenital anomaly	Inferred relationship	Some
Secondary arthroplasty of hip for correction of congenital deformity	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
Congenital stenosis of superior vena cava	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	2
Left ventricle outflow chamber	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Incomplete ossification of arch of thoracic vertebra	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital cerebral cyst	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital arteriovenous malformation of GIT	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	2

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Reference Sets

Australian dialect reference set

Concept inactivation indicator reference set

Description inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set

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Id	Description	Lang	Type	Status	Case?	Module
172092016	Congenital anomaly	en	Synonym	Active	Case insensitive	SNOMED CT core
593259012	Congenital anomaly (morphologic abnormality)	en	Fully specified name	Active	Case insensitive	SNOMED CT core